JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LCN10_chr9_136733170_136747940	136740835	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02129.hp2 NA18612.hp1 NA18947.hp2 others(1): Show HG02129.hp2 NA18612.hp1 NA18947.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	4	392	0.0102	0	c.475 others(5): Show c.475+1G>A		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding	4/5						chr9	TogoVar
LDAF1_chr16_21153674_21185616	21158748	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	390	0.0026	0	c.-99 others(5): Show c.-99+2T>C		LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	1/4						chr16	TogoVar
LIAS_chr4_39454056_39484506	39467647	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	424	0.0024	0	c.737 others(5): Show c.737+1G>A		LIAS	ENSG00000121897.15	transcript	ENST00000640888.2	protein_coding	7/10						chr4	TogoVar
LILRB4_chr19_54657985_54673718	54667792	AG AG	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show HG00280.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA20300.hp1	a0022 a0031 a0032 others(9): Show a0022 a0031 a0032 a0039 a0040 a0044 a0047 a0051 a0063 a0065 a0066 a0070	a0022c0025 a0031c0044 a0032c0072 others(11): Show a0022c0025 a0031c0044 a0032c0072 a0032c0081 a0039c0038 a0040c0062 a0040c0064 a0044c0070 a0047c0073 a0051c0077 a0063c0057 a0065c0055 a0066c0052 a0070c0067	a0022c0025t0001 a0031c0044t0001 a0032c0072t0001 others(11): Show a0022c0025t0001 a0031c0044t0001 a0032c0072t0001 a0032c0081t0001 a0039c0038t0001 a0040c0062t0005 a0040c0064t0001 a0044c0070t0001 a0047c0073t0001 a0051c0077t0001 a0063c0057t0001 a0065c0055t0001 a0066c0052t0001 a0070c0067t0001	a0022c0025t0001g0017 a0022c0025t0001g0213 a0031c0044t0001g0086 others(13): Show a0022c0025t0001g0017 a0022c0025t0001g0213 a0031c0044t0001g0086 a0031c0044t0001g0087 a0032c0072t0001g0079 a0032c0081t0001g0169 a0039c0038t0001g0046 a0040c0062t0005g0234 a0040c0064t0001g0206 a0044c0070t0001g0171 a0047c0073t0001g0222 a0051c0077t0001g0239 a0063c0057t0001g0092 a0065c0055t0001g0114 a0066c0052t0001g0156 a0070c0067t0001g0270	21	487	0.0431	-1	c.120 others(7): Show c.1200+1delG		LILRB4	ENSG00000186818.13	transcript	ENST00000695418.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
LILRB4_chr19_54657985_54673718	54667795	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG01074.hp1 HG01081.hp2 others(18): Show HG00280.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA20300.hp1	a0022 a0031 a0032 others(9): Show a0022 a0031 a0032 a0039 a0040 a0044 a0047 a0051 a0063 a0065 a0066 a0070	a0022c0025 a0031c0044 a0032c0072 others(11): Show a0022c0025 a0031c0044 a0032c0072 a0032c0081 a0039c0038 a0040c0062 a0040c0064 a0044c0070 a0047c0073 a0051c0077 a0063c0057 a0065c0055 a0066c0052 a0070c0067	a0022c0025t0001 a0031c0044t0001 a0032c0072t0001 others(11): Show a0022c0025t0001 a0031c0044t0001 a0032c0072t0001 a0032c0081t0001 a0039c0038t0001 a0040c0062t0005 a0040c0064t0001 a0044c0070t0001 a0047c0073t0001 a0051c0077t0001 a0063c0057t0001 a0065c0055t0001 a0066c0052t0001 a0070c0067t0001	a0022c0025t0001g0017 a0022c0025t0001g0213 a0031c0044t0001g0086 others(13): Show a0022c0025t0001g0017 a0022c0025t0001g0213 a0031c0044t0001g0086 a0031c0044t0001g0087 a0032c0072t0001g0079 a0032c0081t0001g0169 a0039c0038t0001g0046 a0040c0062t0005g0234 a0040c0064t0001g0206 a0044c0070t0001g0171 a0047c0073t0001g0222 a0051c0077t0001g0239 a0063c0057t0001g0092 a0065c0055t0001g0114 a0066c0052t0001g0156 a0070c0067t0001g0270	21	487	0.0431	0	c.120 others(6): Show c.1200+2T>A		LILRB4	ENSG00000186818.13	transcript	ENST00000695418.1	protein_coding	11/11						chr19	TogoVar
LIPE_chr19_42396514_42432388	42426266	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	228	0.0044	0	c.883 others(5): Show c.883+1G>A		LIPE	ENSG00000079435.10	transcript	ENST00000244289.9	protein_coding	1/9						chr19	TogoVar
LMAN2_chr5_177326567_177356668	177351450	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0041 a0005c0003t0001g0041	1	376	0.0027	0	c.196 others(5): Show c.196+2T>G		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	1/7						chr5	TogoVar
LMAN2_chr5_177326567_177356668	177351451	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0041 a0005c0003t0001g0041	1	376	0.0027	0	c.196 others(5): Show c.196+1G>T		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	1/7						chr5	TogoVar
LMTK3_chr19_48480271_48516835	48497366	CCTGACTG others(18): Show CCTGACTGTGCCCCGCAGCCTCCTCA	C C	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0072 a0006c0025t0001g0072	1	314	0.0032	-25	c.367 others(39): Show c.3676+2_3676+26delTGAGGAGGCTGCGGGGCACAGTCAG		LMTK3	ENSG00000142235.13	transcript	ENST00000600059.6	protein_coding	11/14						chr19	TogoVar
LPCAT3_chr12_6971185_7023476	6977132	AC AC	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02258.hp1 HG02965.hp1 HG03486.hp1 others(16): Show HG02258.hp1 HG02965.hp1 HG03486.hp1 NA18522.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18981.hp1 NA18999.hp1 NA19009.hp2 NA19011.hp1 NA19059.hp1 NA19072.hp2 NA19078.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0005 a0002c0004t0002g0026 others(12): Show a0002c0004t0002g0001 a0002c0004t0002g0005 a0002c0004t0002g0026 a0002c0004t0002g0081 a0002c0004t0002g0082 a0002c0004t0002g0220 a0002c0004t0002g0221 a0002c0004t0002g0222 a0002c0004t0002g0223 a0002c0004t0002g0224 a0002c0004t0002g0225 a0002c0004t0002g0226 a0002c0004t0002g0228 a0002c0004t0002g0238 a0002c0004t0002g0239	19	282	0.0674	-1	c.12 others(6): Show c.12+1delG		LPCAT3	ENSG00000111684.11	transcript	ENST00000261407.9	protein_coding	12/12						chr12	TogoVar
LRP11_chr6_149813757_149869359	149837337	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	334	0.0030	0	c.103 others(6): Show c.1039+1G>A		LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	4/6						chr6	TogoVar
LRRC69_chr8_91097619_91224257	91200794	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp1 HG01934.hp2 HG00733.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0194 a0001c0001t0001g0196	2	318	0.0063	0	c.933 others(5): Show c.933+2T>A		LRRC69	ENSG00000214954.9	transcript	ENST00000448384.3	protein_coding	7/7						chr8	TogoVar
LRRC9_chr14_59915144_60071817	59982061	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00099.hp1 HG00280.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0006 a0008c0011t0003 a0008c0011t0006	a0008c0011t0003g0212 a0008c0011t0006g0211 a0008c0011t0003g0212 a0008c0011t0006g0211	2	322	0.0062	0	c.209 others(6): Show c.2091+1G>A		LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	16/32						chr14	TogoVar
LRRIQ3_chr1_74021015_74203176	74183435	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02723.hp2 HG03225.hp2 HG02723.hp2 HG03225.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0263 a0002c0009t0008g0264 a0002c0009t0008g0263 a0002c0009t0008g0264	2	274	0.0073	0	c.249 others(5): Show c.249+1G>A		LRRIQ3	ENSG00000162620.16	transcript	ENST00000354431.9	protein_coding	2/7						chr1	TogoVar
LRSAM1_chr9_127446510_127508499	127452034	GGGTGCAC others(396): Show GGGTGCACCCGCGGGTCCCAACGTGGGGGATCCCTCCATCCGCAAAGCCA GGTCAGCCACTGCCCACCCCACCCCAGGAAATATGGGTGTGGCCCTCCCC CCGCATCTAGGCTGGACGTCGGAGAGGGAGGGACAGGCATGTGGGGCAGC CTGGAAAGAACTGATCTTCGGGGAGGGGTGGGAGAGCGATGGTGGTTGGG AGGAAGTGGGGAGGGCTGCACATCAGGAAGGGGGTGCAAGAGGGTTAGTG ATTGGGGAGCAGAAGGGTAAGTGCTGGTCATCAGGGACGGATGGGGGAGG GCTGTTTTCAAACCATTCCCCATCCTTGCAGGCAGGTGGGGTGACAAGAG GGCCTGAACTGGCTCTGCAGGCCTGGCTGCCTCCCCAGACAGCCCCGCCC CCGT	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18974.hp2 NA18974.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0009 a0004c0006t0004g0009	1	340	0.0029	-403	c.-80 others(11): Show c.-80_-33+355del		LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding	2/26				2089	INFO_REALIGN_3_PRIME	chr9	TogoVar
LRWD1_chr7_102459984_102478168	102466052	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp2 NA19055.hp2	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0002 a0008c0029t0002	a0008c0029t0002g0107 a0008c0029t0002g0107	1	428	0.0023	0	c.315 others(5): Show c.315+1G>A		LRWD1	ENSG00000161036.13	transcript	ENST00000292616.10	protein_coding	2/14						chr7	TogoVar
LRWD1_chr7_102459984_102478168	102466053	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp2 NA19055.hp2	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0002 a0008c0029t0002	a0008c0029t0002g0107 a0008c0029t0002g0107	1	428	0.0023	0	c.315 others(5): Show c.315+2T>C		LRWD1	ENSG00000161036.13	transcript	ENST00000292616.10	protein_coding	2/14						chr7	TogoVar
LTN1_chr21_28923144_28997877	28970534	AAAATTTA others(11): Show AAAATTTAAATTACTTACC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18997.hp1 NA18997.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0107 a0016c0016t0001g0107	1	404	0.0025	-18	c.117 others(30): Show c.1175_1175+17delGGTAAGTAATTTAAATTT	p.Leu others(5): Show p.Leu393fs	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding	8/30		1175/5301	392/1766			chr21	TogoVar
LYG2_chr2_99237246_99260666	99245261	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	426	0.0024	0	c.381 others(5): Show c.381+1G>C		LYG2	ENSG00000185674.10	transcript	ENST00000333017.7	protein_coding	5/6						chr2	TogoVar
MAGEA10_chrX_152128310_152143577	152136870	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	282	0.0036	0	c.-14 others(6): Show c.-140+1G>T		MAGEA10	ENSG00000124260.12	transcript	ENST00000370323.9	protein_coding	2/3						chrX	TogoVar
MAGEA12_chrX_152728757_152742669	152733858	A A	AG AG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp1 NA19055.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0012 a0005c0006t0012	a0005c0006t0012g0037 a0005c0006t0012g0037	1	322	0.0031	1	c.-18 others(7): Show c.-182+1dupG		MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB3_chrX_30225657_30242495	30232727	TGCGCCAC others(425): Show TGCGCCACTGCACTCCCGCCTGGGTGACAGAGAGAGACTCCATCTCAAAA TAAGTAAATAAATAAATAAATATAAACTTTTTTTTATTTTTTATTTTAAG GCAGGGCTGTGGCTCACGCTTGTAATCCCAACATTTTGGGCGGAGGAAGC CAGCCTCATCGCTTAAGCACAGGAGTTCGCGGACTGGGAGGTGAGCTGCC CCTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCC CTAGGAGTCAAGGCTGCAGTGAGCCAAGGTCACGCCACTGCGCTCCAGCC TGGGCGACAGAGAGAGACACTGTCTCAAATTAGCCGGGCGTGGTGGGGCA CAGGTGTAGTCCCAGCTATTCGGGAGGTGGAGGCAGGAGAATCCCTTGAA CCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC	T T	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA19006.hp1 NA19078.hp2 NA18954.hp2 NA19006.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0035 a0003c0003t0006g0097 a0003c0003t0006g0035 a0003c0003t0006g0097	3	338	0.0089	-432	c.-25 others(15): Show c.-253-68_-163-72del		MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMDC4_chr9_136847346_136865799	136855611	AGGCCTGT others(22): Show AGGCCTGTGGTAAAGGGGCTCAACCTCCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18978.hp1 NA18978.hp1	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0001 a0028c0027t0001	a0028c0027t0001g0021 a0028c0027t0001g0021	1	350	0.0029	-29	c.146 others(41): Show c.1464_1471+21delGGCCTGTGGTAAAGGGGCTCAACCTCCTG	p.Ala others(5): Show p.Ala489fs	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	12/27	1535/3681	1464/3414	488/1137			chr9	TogoVar
MAMDC4_chr9_136847346_136865799	136855620	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG03654.hp2 HG03927.hp1 HG01123.hp2 HG03654.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0012 a0001c0001t0001g0033	3	350	0.0086	0	c.147 others(6): Show c.1471+1G>A		MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	12/26						chr9	TogoVar
MAMDC4_chr9_136847346_136865799	136857587	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19004.hp1 NA19054.hp2 NA19004.hp1 NA19054.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	2	350	0.0057	0	c.232 others(6): Show c.2326+1G>A		MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	18/26						chr9	TogoVar
MAN2B1_chr19_12641512_12671742	12664791	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	380	0.0026	0	c.630 others(5): Show c.630+1G>C		MAN2B1	ENSG00000104774.13	transcript	ENST00000456935.7	protein_coding	4/23						chr19	TogoVar
MAP7D1_chr1_36151160_36185849	36179027	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03041.hp1 HG03041.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0072 a0014c0029t0001g0072	1	378	0.0027	0	c.213 others(6): Show c.2130+2T>G		MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding	12/16						chr1	TogoVar
MAPKAPK3_chr3_50612151_50654291	50646826	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	326	0.0031	0	c.915 others(5): Show c.915+1G>A		MAPKAPK3	ENSG00000114738.11	transcript	ENST00000621469.5	protein_coding	9/10						chr3	TogoVar
MARCHF7_chr2_159707506_159776027	159714599	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG01074.hp2 HG01516.hp2 others(6): Show HG00280.hp1 HG01074.hp2 HG01516.hp2 HG01517.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp2 HG03209.hp2 HG04204.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0013 a0004c0007t0011g0171 a0004c0007t0011g0172 others(5): Show a0004c0007t0011g0013 a0004c0007t0011g0171 a0004c0007t0011g0172 a0004c0007t0011g0173 a0004c0007t0011g0174 a0004c0007t0011g0175 a0004c0007t0011g0176 a0004c0007t0011g0177	9	364	0.0247	0	c.-10 others(6): Show c.-101+1G>A		MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	2/11						chr2	TogoVar
MAT2A_chr2_85534168_85550281	85542748	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	418	0.0024	0	c.951 others(5): Show c.951+1G>A		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/8						chr2	TogoVar
MAT2A_chr2_85534168_85550281	85542749	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	418	0.0024	0	c.951 others(5): Show c.951+2T>C		MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/8						chr2	TogoVar
MED12_chrX_71113596_71147450	71134466	A A	AG AG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19059.hp2 NA19059.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0047 a0004c0023t0001g0047	1	273	0.0037	1	c.472 others(7): Show c.4727+1dupG		MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	34/44					INFO_REALIGN_3_PRIME	chrX	TogoVar
MEF2B_chr19_19140567_19175263	19147006	CTCACCCC others(40): Show CTCACCCCTGCCCCACTGTCCCATGCTCACCTGGGGGCCCGGCTTTGG	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0240 a0008c0010t0001g0240	1	404	0.0025	-47	c.524 others(57): Show c.524_541+29delCCAAAGCCGGGCCCCCAGGTGAGCATGGGACAGTG GGGCAGGGGTGA	p.Pro others(19): Show p.Pro175_Gly181delinsArg	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding	5/9		524/1107	175/368			chr19	TogoVar
MEGF8_chr19_42320635_42383765	42333769	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	172	0.0058	0	c.351 others(5): Show c.351+1G>T		MEGF8	ENSG00000105429.13	transcript	ENST00000251268.11	protein_coding	2/41						chr19	TogoVar
METTL17_chr14_20984980_21002035	20996707	GGCAGGTA others(69): Show GGCAGGTATGGGGGGTGTGACCAAAATCAGTGGGATGTGGCAGGAAGCTG CAGCCCACGCCAGCATCTGTTTCCACA	G G	splice_acceptor_variant others(4): Show splice_acceptor_variant splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18957.hp2 NA18957.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0106 a0006c0007t0001g0106	1	478	0.0021	-76	c.126 others(87): Show c.1263_1266-1delCAGGTATGGGGGGTGTGACCAAAATCAGTGGGAT GTGGCAGGAAGCTGCAGCCCACGCCAGCATCTGTTTCCACAG	p.Arg others(6): Show p.Arg422del	METTL17	ENSG00000165792.18	transcript	ENST00000339374.11	protein_coding	13/14	1286/1539	1263/1371	421/456		INFO_REALIGN_3_PRIME	chr14	TogoVar
METTL21A_chr2_207607739_207630394	207621541	GGGGGCAG others(1215): Show GGGGGCAGAGCAATCTCCCATGGGAAGTATAAATAACAGAGTGTGTGTGT GTGTGAGAGAGAGAGACAGAAATTAGAGAGAGAGAAATTAGCCCGTTAGC CTCACTGGAGTTAAGAACCCCAGCAGTTGGCCCACAACTCATAAGTATAA GCAAAAGATAATAACCCAGTAAGGGGAAAACCCACGAAGGGTTTTGCGCT AAGAAAACAGCAAATGCACCTCTCAATGAGTTCTGCTCACTAAGGAGTCA ATGCATGACACTCACCCAGCAGGGCAGCCACTATGCCCACCAGCCCCGTG CCAGCACCCAGCTCCACGGCAGAGCGGCCCCTGAGCTCCACAGCTCCCAT CTCCAGGTATGTGGAAAGAACGATGGCCTGAATGAAAACACAGTGTGATG ACGATTAAGGTCAACATGTGCTTGAGTAGCTGCAGGGTTTCAGGTCAGCT ACACCCACCCCTCTCCCACTTCGAGGTTCAATTCCCAGCTTAACAACACA CACAGGAACTTAGCTGGTGCAGCAAGGTAACCTCCCCCTTAGAGCAAGCA CAGGGTCCCACAGCAGTGCCCAGAGATGATGCCCACACTAAATGGGGTCC TGCTGGATCTGGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCAGTCCATCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGC TCACTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTCCCACCTCAGCAC CCCCAGTAACTGGGACACAGGCGTGCACCACCACACCCAGCTAATTTTTG TAGTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTT GAACTCCTGAGCTCCTGCGTCAGCTTCCCAAAGTGCTAGGATTATAGGCG TGAGCTATCACACCCAGCCTGGAAAGCTTAACTTTTTACTGTGTCACAGC ACTTTTATGCTTGAAGTTTACACAACTATTCTGCAAGAACTGACATGAAC AATTTCTATGATTTTGTTTAAGGGAATGCCCAGTTCCTAAACCAAACTCA GGTCAGCAAAGCCACAACTTCACCCATAGGGAAAAAGCAACACATTGCCC AAGGGTCTCTGAACTGCGTCACTGATGGTCATCGCCCCACAGGGGCCCTC ACCATACGTTTTGGGCATCAGAAGGTAAGTTTTGGCCAAAGTTTTGGATA CTTGATGTGTGGTTTCAACATTT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0115 a0007c0009t0001g0115	1	386	0.0026	-1222	c.148 others(15): Show c.148-846_259+264del		METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding	3/4						chr2	TogoVar
MFGE8_chr15_88893683_88918379	88909773	AGCACCCC others(92): Show AGCACCCCCACATACTCACTCGTCTCACAGTGGTTGCCCGCGTAGCCCTT AAGGCACGTGCAGGTGTACGAGGGGAAGACATCTCCTCGCACTTCTTGGG	A A	stop_gained others(4): Show stop_gained splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01934.hp2 HG01934.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0217 a0012c0016t0002g0217	1	436	0.0023	-99	c.125 others(109): Show c.125_205+18delCCCAAGAAGTGCGAGGAGATGTCTTCCCCTCGTAC ACCTGCACGTGCCTTAAGGGCTACGCGGGCAACCACTGTGAGACGAGTGA GTATGTGGGGGTGC	p.Ser others(17): Show p.Ser42_Lys69delinsTer	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding	2/8		125/1164	42/387			chr15	TogoVar
MFRP_chr11_119333942_119351705	119340693	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0144 a0002c0002t0022g0144	1	318	0.0031	0	c.85 others(6): Show c.853+2T>G		MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	13/14						chr11	TogoVar
MGAM_chr7_141990879_142111747	142008706	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp2 NA19076.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0230 a0006c0014t0001g0230	1	316	0.0032	0	c.327 others(5): Show c.327+1G>T		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	3/70						chr7	TogoVar
MGAT4D_chr4_140437262_140503293	140474812	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0249 a0002c0002t0012g0249	1	332	0.0030	0	c.525 others(5): Show c.525+1G>A		MGAT4D	ENSG00000205301.12	transcript	ENST00000511113.6	protein_coding	4/10						chr4	TogoVar
MGAT5_chr2_134249072_134459621	134338422	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0056 a0001c0001t0070g0056	1	282	0.0036	0	c.807 others(5): Show c.807+2T>A		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	6/15						chr2	TogoVar
MICALL2_chr7_1429359_1464470	1440589	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02155.hp2 HG02155.hp2	a0031 a0031	a0031c0049 a0031c0049	a0031c0049t0001 a0031c0049t0001	a0031c0049t0001g0104 a0031c0049t0001g0104	1	280	0.0036	0	c.180 others(6): Show c.1805+2T>C		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	8/16						chr7	TogoVar
MICA_chr6_31398595_31420315	31411360	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02698.hp1 HG02698.hp1	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0001 a0000c0010t0001	a0000c0010t0001g0102 a0000c0010t0001g0102	1	439	0.0023	0	c.613 others(5): Show c.613+1G>C		MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	3/5						chr6	TogoVar
MICA_chr6_31398595_31420315	31412224	TG TG	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG01169.hp2 HG02080.hp2 others(9): Show HG00140.hp2 HG01169.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02717.hp1 HG02886.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA19030.hp1	a0000 a0000	a0000c0011 a0000c0013 a0000c0011 a0000c0013	a0000c0011t0003 a0000c0013t0003 a0000c0011t0003 a0000c0013t0003	a0000c0011t0003g0013 a0000c0013t0003g0024 a0000c0013t0003g0112 a0000c0011t0003g0013 a0000c0013t0003g0024 a0000c0013t0003g0112	12	439	0.0273	-1	c.892 others(6): Show c.892+1delG		MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
MILR1_chr17_64444115_64473643	64465543	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02738.hp1 HG04199.hp2 HG02738.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	394	0.0051	0	c.853 others(5): Show c.853+2T>C		MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding	6/9						chr17	TogoVar
MIPEP_chr13_23725189_23894400	23858858	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18941.hp1 NA18989.hp2 NA18941.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0001t0001g0154 a0001c0001t0001g0186	2	306	0.0065	0	c.110 others(6): Show c.1106+2T>A		MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	10/18						chr13	TogoVar
MISP_chr19_746112_769318	751163	AGCCGGCA others(15): Show AGCCGGCAGGTGAGGCTGGGGGC	A A	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG02723.hp2 NA19043.hp2 HG02723.hp2 NA19043.hp2	a0006 a0012 a0006 a0012	a0006c0014 a0012c0015 a0006c0014 a0012c0015	a0006c0014t0015 a0012c0015t0016 a0006c0014t0015 a0012c0015t0016	a0006c0014t0015g0047 a0012c0015t0016g0048 a0006c0014t0015g0047 a0012c0015t0016g0048	2	432	0.0046	-22	c.-62 others(32): Show c.-62_-58+17delGGCAGGTGAGGCTGGGGGCGCC		MISP	ENSG00000099812.9	transcript	ENST00000215582.8	protein_coding	1/5				5759	INFO_REALIGN_3_PRIME	chr19	TogoVar
MKS1_chr17_58200441_58224255	58214740	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	326	0.0031	0	c.515 others(5): Show c.515+1G>A		MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	5/17						chr17	TogoVar
MLANA_chr9_5885889_5915606	5892552	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02074.hp2 NA18972.hp1 HG02074.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0044 a0001c0001t0009g0044 a0001c0001t0001g0044 a0001c0001t0009g0044	2	424	0.0047	0	c.77+ others(4): Show c.77+1G>C		MLANA	ENSG00000120215.10	transcript	ENST00000381477.8	protein_coding	2/4						chr9	TogoVar
MMP20_chr11_102571832_102630332	102578264	ATCCGGAG others(1162): Show ATCCGGAGTAGCTGGGACTACAGGTGTGTGCCATCATTCTCAGCTAACTT TTTTGTAGAGACAGAGTTTTGCCATATTGCCCAAGCTGGTATTGAATTCC TGGGCTGAAGTGATCCTACCACCTCATCCTCCCAAAGTGCTGGAATTACA GGTGTGTGTCACTGTGCCCAACCAAGACTATGTGTATTTTAAAGATAGAA AAGGTAATCTTGACCCCGGTAGACTTTATGATCTAGCTGACTAATCGATT GAAGCTATACTTTAAAAACTTTCCATTAGGTGGCCAACATGGTGAAACTC CATCTCCACTAAAAATACAAACATTAGCTGGGCCTGGTGGCCAGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTCGAATCTGGG AGGCAGAAGTTGCAGTGAGCAGAGATCGCGCCACTGCAGTCCAGCCTGGC CACAGAGCGAGACTCCGTCTCAAAAAAAACAAAAAACAAAAAACAAAAAA CAAAAACAAAAAACAAAACACACACACACAAAAACAAAAACAAACAAACA AACAAACAAAAACTTTCCATTAGGAAAGAGAGAACTAAAATACCAGAACT TTTACAGTTACTCTTTCTAGTGGACAATCTGTTTAGATAAACTTATGAAA GGACCTAAGACCAAATATAAAAACCAAGGACTCCCACTTGGAAATCCACT TTCTGTTGTGTTAAAGCAAAGCCAAGATTTCTTATGATAGTTTTCATGAA GAAAGTTTTCAGTGGAAACACTTACCATTTAATTCTACAGCAGCATCGAT TTGGCCATTTACTCCTGAAAATTCTTCTTCAGTATTCTTTGGATAGTCTT TTTCCATTTTCCTTTTCCTTTCGTCGTAGCTAGAAAAAGTATTATTTCAT AAATAATATTACTAAGAGGTTTTTACTGGTTGTAGATGACACTATACTGG TCAGGCATATGGACACATAACTTATTTAGGTGTTCCTCTCTCTCTCTGTT TCACATACACATACACATGCATTTATGTTGTTATTTATTTTTTCTTTGTT GTGTTTTTGTTTTTTTTTTGAGATGGGGTCTCACTGTTGCCCAGGCTGAA GTGTAGTGGTGCCATCATGGCTCACCACTGCCTTGACCTTCCAGGCTCAA GCGATCCTCCTGTCTCAGCC	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0201 a0014c0016t0001g0201	1	446	0.0022	-1169	c.124 others(17): Show c.1248-291_1351+774del		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	9/10						chr11	TogoVar

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Search Results (Total: 1035 hits)